MDA-5 associated rapidly progressive interstitial lung disease with recurrent Pneumothoraces: a case report.
Identifieur interne : 000114 ( PubMed/Curation ); précédent : 000113; suivant : 000115MDA-5 associated rapidly progressive interstitial lung disease with recurrent Pneumothoraces: a case report.
Auteurs : Safi Alqatari [Oman] ; Peter Riddell [Irlande (pays)] ; Sinead Harney [Irlande (pays)] ; Michael Henry [Irlande (pays)] ; Grainne Murphy [Irlande (pays)]Source :
- BMC pulmonary medicine [ 1471-2466 ] ; 2018.
Descripteurs français
- KwdFr :
- Adulte d'âge moyen, Anticorps anti-idiotypiques (sang), Cyclophosphamide (usage thérapeutique), Dermatomyosite (), Dermatomyosite (diagnostic), Dermatomyosite (traitement médicamenteux), Femelle, Humains, Hélicase IFIH1 inductrice de l'interféron (métabolisme), Issue fatale, Pneumopathies interstitielles (diagnostic), Pneumopathies interstitielles (traitement médicamenteux), Pneumothorax (), Rituximab (usage thérapeutique), Tomodensitométrie, Évolution de la maladie.
- MESH :
- diagnostic : Dermatomyosite, Pneumopathies interstitielles.
- métabolisme : Hélicase IFIH1 inductrice de l'interféron.
- sang : Anticorps anti-idiotypiques.
- traitement médicamenteux : Dermatomyosite, Pneumopathies interstitielles.
- usage thérapeutique : Cyclophosphamide, Rituximab.
- Adulte d'âge moyen, Dermatomyosite, Femelle, Humains, Issue fatale, Pneumothorax, Tomodensitométrie, Évolution de la maladie.
English descriptors
- KwdEn :
- Antibodies, Anti-Idiotypic (blood), Cyclophosphamide (therapeutic use), Dermatomyositis (complications), Dermatomyositis (diagnosis), Dermatomyositis (drug therapy), Disease Progression, Fatal Outcome, Female, Humans, Interferon-Induced Helicase, IFIH1 (metabolism), Lung Diseases, Interstitial (diagnosis), Lung Diseases, Interstitial (drug therapy), Middle Aged, Pneumothorax (complications), Rituximab (therapeutic use), Tomography, X-Ray Computed.
- MESH :
- chemical , blood : Antibodies, Anti-Idiotypic.
- chemical , metabolism : Interferon-Induced Helicase, IFIH1.
- chemical , therapeutic use : Cyclophosphamide, Rituximab.
- complications : Dermatomyositis, Pneumothorax.
- diagnosis : Dermatomyositis, Lung Diseases, Interstitial.
- drug therapy : Dermatomyositis, Lung Diseases, Interstitial.
- Disease Progression, Fatal Outcome, Female, Humans, Middle Aged, Tomography, X-Ray Computed.
Abstract
Clinically hypomyopathic dermatomyositis is a rare disease that is important to recognize, investigate and treat early as it is associated with poor prognosis. In a proportion of patients, myositis specific antibodies could be negative, but with high clinical suspicion, myositis associated antibodies should be ordered. Anti-MDA-5 antibodies was reported in literature to be associated with severe and rapidly progressive interstitial lung disease, with few case reports of pneumothorax and/or pneumomediastinum.
DOI: 10.1186/s12890-018-0622-8
PubMed: 29665800
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fatale</term><term>Pneumothorax</term><term>Tomodensitométrie</term><term>Évolution de la maladie</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Clinically hypomyopathic dermatomyositis is a rare disease that is important to recognize, investigate and treat early as it is associated with poor prognosis. In a proportion of patients, myositis specific antibodies could be negative, but with high clinical suspicion, myositis associated antibodies should be ordered. Anti-MDA-5 antibodies was reported in literature to be associated with severe and rapidly progressive interstitial lung disease, with few case reports of pneumothorax and/or pneumomediastinum.</div></front></TEI><pubmed><MedlineCitation Status="MEDLINE" Owner="NLM"><PMID Version="1">29665800</PMID><DateCompleted><Year>2019</Year><Month>04</Month><Day>22</Day></DateCompleted><DateRevised><Year>2019</Year><Month>04</Month><Day>22</Day></DateRevised><Article PubModel="Electronic"><Journal><ISSN IssnType="Electronic">1471-2466</ISSN><JournalIssue CitedMedium="Internet"><Volume>18</Volume><Issue>1</Issue><PubDate><Year>2018</Year><Month>Apr</Month><Day>17</Day></PubDate></JournalIssue><Title>BMC pulmonary medicine</Title><ISOAbbreviation>BMC Pulm Med</ISOAbbreviation></Journal><ArticleTitle>MDA-5 associated rapidly progressive interstitial lung disease with recurrent Pneumothoraces: a case report.</ArticleTitle><Pagination><MedlinePgn>59</MedlinePgn></Pagination><ELocationID EIdType="doi" ValidYN="Y">10.1186/s12890-018-0622-8</ELocationID><Abstract><AbstractText Label="BACKGROUND" NlmCategory="BACKGROUND">Clinically hypomyopathic dermatomyositis is a rare disease that is important to recognize, investigate and treat early as it is associated with poor prognosis. In a proportion of patients, myositis specific antibodies could be negative, but with high clinical suspicion, myositis associated antibodies should be ordered. Anti-MDA-5 antibodies was reported in literature to be associated with severe and rapidly progressive interstitial lung disease, with few case reports of pneumothorax and/or pneumomediastinum.</AbstractText><AbstractText Label="CASE PRESENTATION" NlmCategory="METHODS">A 49-year-old previously healthy lady, presented with a 6 week history of skin rash, photosensitivity, mouth ulcers, fatiguability, arthralgia and myalgia. She denied subjective weakness, respiratory symptoms or dysphagia. She had Raynaud's phenomenon affecting her fingers only. Initial examination showed synovitis in her hands with skin rash. Autoimmune screen was negative. She was started on hydroxychloroquine. 4 weeks later on follow-up, she developed proximal muscle pain, dysphagia, dyspnea and dry cough. Examination showed mild proximal muscle weakness and bi-basal crackles. She was admitted and extended myositis screen was sent. She had mild anemia, lymphopenia and neutropenia, normal inflammatory markers, liver and renal panels. Capillaroscopy showed pattern of systemic sclerosis. CT chest showed early ILD. Electromyography and MRI showed features of mild myositis. PFT showed muscle weakness with low DLCO. She was given intravenous steroid and Rituximab. As she continued to deteriorate, intravenous immunoglobulins and cyclophosphamide were given. There was a brief clinical response that was short-lived with increasing oxygen dependency necessitating transfer to the ICU. At this point, the extended myositis screen confirmed the presence of anti-MDA-5 antibodies. She commenced plasmapharesis and required intubation. Unfortunately, she developed multiple pneumothoraces, and was transferred urgently for ECMO. Subsequent immunosuppression included rituximab and tacrolimus. There was progression of her ILD and recurrent pneumothoraces and pneumomediastinum. Unfortunately, she passed away as a consequence of her disease.</AbstractText><AbstractText Label="CONCLUSION" NlmCategory="CONCLUSIONS">This case highlights a number of considerations in approaching patients with inflammatory myositis, particularly to pulmonary involvement. It is important to highlight the utility of extended myositis antibody testing in predicting disease phenotypes and its impact on therapeutic decisions. From a management perspective, aggressive immunosuppression should be considered with potential need of earlier utilization of ECMO.</AbstractText></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Alqatari</LastName><ForeName>Safi</ForeName><Initials>S</Initials><Identifier Source="ORCID">http://orcid.org/0000-0002-3994-8216</Identifier><AffiliationInfo><Affiliation>Royal College of Physicians of Ireland, Rheumatology Department, Cork University Hospital, Wilton, Cork, Ireland, T12 DC4A. alqatarisafi@hotmail.com.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Riddell</LastName><ForeName>Peter</ForeName><Initials>P</Initials><AffiliationInfo><Affiliation>Rheumatology Department, Cork University Hospital, Wilton, Cork, Ireland.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Harney</LastName><ForeName>Sinead</ForeName><Initials>S</Initials><AffiliationInfo><Affiliation>Internal Medicine and Rheumatology Consultant Rheumatology Department, Cork University Hospital, Wilton, Cork, Ireland.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Henry</LastName><ForeName>Michael</ForeName><Initials>M</Initials><AffiliationInfo><Affiliation>Rheumatology Department, Cork University Hospital, Wilton, Cork, Ireland.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Murphy</LastName><ForeName>Grainne</ForeName><Initials>G</Initials><AffiliationInfo><Affiliation>Rheumatology Department, Cork University Hospital, Wilton, Cork, Ireland.</Affiliation></AffiliationInfo></Author></AuthorList><Language>eng</Language><PublicationTypeList><PublicationType UI="D002363">Case Reports</PublicationType><PublicationType UI="D016428">Journal Article</PublicationType></PublicationTypeList><ArticleDate DateType="Electronic"><Year>2018</Year><Month>04</Month><Day>17</Day></ArticleDate></Article><MedlineJournalInfo><Country>England</Country><MedlineTA>BMC Pulm Med</MedlineTA><NlmUniqueID>100968563</NlmUniqueID><ISSNLinking>1471-2466</ISSNLinking></MedlineJournalInfo><ChemicalList><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D000888">Antibodies, Anti-Idiotypic</NameOfSubstance></Chemical><Chemical><RegistryNumber>4F4X42SYQ6</RegistryNumber><NameOfSubstance UI="D000069283">Rituximab</NameOfSubstance></Chemical><Chemical><RegistryNumber>8N3DW7272P</RegistryNumber><NameOfSubstance UI="D003520">Cyclophosphamide</NameOfSubstance></Chemical><Chemical><RegistryNumber>EC 3.6.1.-</RegistryNumber><NameOfSubstance UI="C452815">IFIH1 protein, human</NameOfSubstance></Chemical><Chemical><RegistryNumber>EC 3.6.4.13</RegistryNumber><NameOfSubstance UI="D000072640">Interferon-Induced Helicase, IFIH1</NameOfSubstance></Chemical></ChemicalList><CitationSubset>IM</CitationSubset><MeshHeadingList><MeshHeading><DescriptorName UI="D000888" MajorTopicYN="N">Antibodies, Anti-Idiotypic</DescriptorName><QualifierName UI="Q000097" MajorTopicYN="N">blood</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D003520" MajorTopicYN="N">Cyclophosphamide</DescriptorName><QualifierName UI="Q000627" MajorTopicYN="N">therapeutic use</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D003882" MajorTopicYN="N">Dermatomyositis</DescriptorName><QualifierName UI="Q000150" MajorTopicYN="N">complications</QualifierName><QualifierName UI="Q000175" MajorTopicYN="Y">diagnosis</QualifierName><QualifierName UI="Q000188" MajorTopicYN="N">drug therapy</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D018450" MajorTopicYN="Y">Disease Progression</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D017809" MajorTopicYN="N">Fatal Outcome</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D005260" MajorTopicYN="N">Female</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D006801" MajorTopicYN="N">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D000072640" MajorTopicYN="N">Interferon-Induced Helicase, IFIH1</DescriptorName><QualifierName UI="Q000378" MajorTopicYN="N">metabolism</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D017563" MajorTopicYN="N">Lung Diseases, Interstitial</DescriptorName><QualifierName UI="Q000175" MajorTopicYN="Y">diagnosis</QualifierName><QualifierName UI="Q000188" MajorTopicYN="N">drug therapy</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D008875" MajorTopicYN="N">Middle Aged</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D011030" MajorTopicYN="N">Pneumothorax</DescriptorName><QualifierName UI="Q000150" MajorTopicYN="N">complications</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D000069283" MajorTopicYN="N">Rituximab</DescriptorName><QualifierName UI="Q000627" MajorTopicYN="N">therapeutic use</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D014057" MajorTopicYN="N">Tomography, X-Ray Computed</DescriptorName></MeshHeading></MeshHeadingList><KeywordList Owner="NOTNLM"><Keyword MajorTopicYN="N">Interstitial lung disease</Keyword><Keyword MajorTopicYN="N">MDA-5</Keyword><Keyword MajorTopicYN="N">Myositis</Keyword></KeywordList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="received"><Year>2017</Year><Month>11</Month><Day>30</Day></PubMedPubDate><PubMedPubDate PubStatus="accepted"><Year>2018</Year><Month>04</Month><Day>09</Day></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>2018</Year><Month>4</Month><Day>19</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="pubmed"><Year>2018</Year><Month>4</Month><Day>19</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2019</Year><Month>4</Month><Day>23</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>epublish</PublicationStatus><ArticleIdList><ArticleId IdType="pubmed">29665800</ArticleId><ArticleId IdType="doi">10.1186/s12890-018-0622-8</ArticleId><ArticleId IdType="pii">10.1186/s12890-018-0622-8</ArticleId><ArticleId IdType="pmc">PMC5905122</ArticleId></ArticleIdList><ReferenceList><Reference><Citation>Intensive Care Med. 2012 Feb;38(2):210-20</Citation><ArticleIdList><ArticleId IdType="pubmed">22147116</ArticleId></ArticleIdList></Reference><Reference><Citation>J Intern Med. 2016 Jul;280(1):39-51</Citation><ArticleIdList><ArticleId IdType="pubmed">27320359</ArticleId></ArticleIdList></Reference><Reference><Citation>Arthritis Care Res (Hoboken). 2016 May;68(5):689-94</Citation><ArticleIdList><ArticleId IdType="pubmed">26414240</ArticleId></ArticleIdList></Reference><Reference><Citation>Rheumatology (Oxford). 2015 Jan;54(1):39-44</Citation><ArticleIdList><ArticleId IdType="pubmed">24764266</ArticleId></ArticleIdList></Reference><Reference><Citation>Ann Rheum Dis. 1986 Sep;45(9):780-2</Citation><ArticleIdList><ArticleId 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